PHENOTYPE-GENOTYPE CORRELATION IN JEWISH PATIENTS SUFFERING FROM FAMILIAL MEDITERRANEAN FEVER (FMF)

Familial Mediterranean Fever is one of the most frequent recessive dis ease in non-Ashkenazi Jews, The gene responsible for the disease (MEFV ) has very recently been identified. The M694V ('MED') mutation was fo und in about 80% of the FMF Jewish (Iraqi and North African) chromosom es, To see if the presence of this mutation could be correlated with p articular traits of the disease, we examined a number of clinical feat ures in a panel of 109 Jewish FMF patients with 0, 1 or 2 MED mutation s, We showed that homozygosity for this mutation was significantly ass ociated with a more severe form of the disease, In homozygous patients , the disease started earlier (mean age 6.4+/-5 vs 13.6+/-8.9) and bot h arthritis and pleuritis were twice as frequent as in patients with o ne or no M694V mutation, Moreover, 3/3 patients with amyloidosis displ ayed two MED mutations. No association was found with fever, peritonit is, response to colchicine and erysipeloid eruption, The present resul t strongly suggests the potential prognostic value of the presence of this mutation.